[Application of PCR-SSCP to rapid genetic diagnosis of adult polycystic kidney disease].
OBJECTIVE
To explore a rapid and easy-to-do linkage analysis in families with adult polycystic kidney disease(APKD).


METHODS
The polymorphism of SM7, a SRS which lies proximal to PKD1, among Chinese people was analysed using PCR, PAGE and silver staining. SM7-SSLP linkage analyses were performed in two APKD families and the results were compared with these of 3'HVR/Pvu II linkage analyses in the same families.


RESULTS
Seven kinds of SM7 alleles were observed in the 67 unrelated Chinese people. The heterozygosity was 52.5% and PIC 0.62. The most common allele was Y9. The result was close to that of Harris's report, showing that there is no marked difference in the polymorphism of SM7 between Chinese and Caucasian. The results of SM7-SSLP linkage analyses in the two APKD families consisted with the results of 3'HVR/Pvu II linkage analyses though in one family the information provided by SM7 was less than 3'HVR.


CONCLUSIONS
The polymorphism of SM7 locus is high in Chinese and SM7 can be used in linkage analysis as a valuable marker. SSLP linkage analysis proved to be avery useful way for rapid genetic diagnosis of APKD providing that a highly polymorphic marker is used, and the result can be analysed easily.
Jing
Q
Q
Department of Medical Genetics, Sun Yat-sen University of Medical Sciences, Guangzhou, 510089 P. R. China.
Zeng
R
R
D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D007690:Polycystic Kidney Diseases / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012091:Repetitive Sequences, Nucleic Acid